Incidental Mutation 'R4537:Fus'
| ID |
333374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fus
|
| Ensembl Gene |
ENSMUSG00000030795 |
| Gene Name |
fused in sarcoma |
| Synonyms |
D930039C12Rik, translocated in liposarcoma, pigpen, hnRNP P2, Tls, D430004D17Rik |
| MMRRC Submission |
041774-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127565276-127581204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127575087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 268
(D268G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077609]
[ENSMUST00000106251]
[ENSMUST00000121616]
|
| AlphaFold |
P56959 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077609
AA Change: D268G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076801
Gene: ENSMUSG00000030795
AA Change: D268G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
253 |
N/A |
INTRINSIC |
|
RRM
|
278 |
359 |
3.85e-16 |
SMART |
|
ZnF_RBZ
|
416 |
442 |
9e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106251
AA Change: D269G
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101858
Gene: ENSMUSG00000030795
AA Change: D269G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
254 |
N/A |
INTRINSIC |
|
RRM
|
279 |
360 |
3.85e-16 |
SMART |
|
ZnF_RBZ
|
417 |
443 |
9e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121616
|
| SMART Domains |
Protein: ENSMUSP00000112721
Gene: ENSMUSG00000030795
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
176 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
179 |
205 |
9e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205261
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174632
|
| SMART Domains |
Protein: ENSMUSP00000133820
Gene: ENSMUSG00000030795
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_1
|
6 |
56 |
6.6e-9 |
PFAM |
|
ZnF_RBZ
|
77 |
103 |
9e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141997
|
| SMART Domains |
Protein: ENSMUSP00000134447
Gene: ENSMUSG00000030795
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_RBZ
|
15 |
41 |
9e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.1092 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired lymphocyte development, chromosomal instability, increased cellular radiation sensitivity, high neonatal mortality, and male sterility associated with lack of chromosomal pairing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
T |
A |
13: 14,294,746 (GRCm39) |
Y9* |
probably null |
Het |
| Aspm |
T |
C |
1: 139,402,041 (GRCm39) |
I1235T |
probably benign |
Het |
| Defb30 |
T |
C |
14: 63,273,525 (GRCm39) |
I29M |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
T |
C |
7: 35,411,326 (GRCm39) |
T428A |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,399,424 (GRCm39) |
T560A |
probably benign |
Het |
| Fnip2 |
A |
G |
3: 79,373,021 (GRCm39) |
V1019A |
probably damaging |
Het |
| Gm14412 |
T |
A |
2: 177,006,352 (GRCm39) |
K514N |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,540,788 (GRCm39) |
L265P |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,562,083 (GRCm39) |
M589T |
probably benign |
Het |
| Hoxa1 |
G |
T |
6: 52,134,973 (GRCm39) |
Q77K |
probably benign |
Het |
| Ighv14-2 |
A |
G |
12: 113,958,512 (GRCm39) |
C3R |
probably benign |
Het |
| Itgb2 |
G |
A |
10: 77,397,050 (GRCm39) |
|
probably null |
Het |
| Mrpl24 |
A |
C |
3: 87,829,719 (GRCm39) |
K102Q |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,591 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,732 (GRCm39) |
I149V |
probably damaging |
Het |
| Or10g9 |
T |
A |
9: 39,911,616 (GRCm39) |
K302N |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,776,227 (GRCm39) |
I84F |
probably damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,526 (GRCm39) |
I194N |
possibly damaging |
Het |
| Oxr1 |
A |
G |
15: 41,683,915 (GRCm39) |
Q515R |
possibly damaging |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
T |
A |
2: 71,105,450 (GRCm39) |
|
probably benign |
Het |
| Slc2a3 |
C |
A |
6: 122,714,063 (GRCm39) |
G157V |
probably damaging |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
| Srd5a3 |
G |
A |
5: 76,297,798 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
C |
T |
6: 148,164,280 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
| Vmn2r87 |
T |
G |
10: 130,308,054 (GRCm39) |
H728P |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,194 (GRCm39) |
M284K |
possibly damaging |
Het |
| Zfp101 |
T |
A |
17: 33,601,466 (GRCm39) |
M59L |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,798 (GRCm39) |
E146G |
probably null |
Het |
|
| Other mutations in Fus |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02505:Fus
|
APN |
7 |
127,580,679 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02622:Fus
|
APN |
7 |
127,584,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02951:Fus
|
APN |
7 |
127,581,009 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03029:Fus
|
APN |
7 |
127,584,712 (GRCm39) |
unclassified |
probably benign |
|
|
R0588:Fus
|
UTSW |
7 |
127,584,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0674:Fus
|
UTSW |
7 |
127,571,948 (GRCm39) |
unclassified |
probably benign |
|
|
R0686:Fus
|
UTSW |
7 |
127,571,935 (GRCm39) |
unclassified |
probably benign |
|
|
R0746:Fus
|
UTSW |
7 |
127,584,596 (GRCm39) |
unclassified |
probably benign |
|
|
R1562:Fus
|
UTSW |
7 |
127,579,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Fus
|
UTSW |
7 |
127,580,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2186:Fus
|
UTSW |
7 |
127,584,706 (GRCm39) |
unclassified |
probably benign |
|
|
R2200:Fus
|
UTSW |
7 |
127,576,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4981:Fus
|
UTSW |
7 |
127,566,727 (GRCm39) |
start gained |
probably benign |
|
|
R5206:Fus
|
UTSW |
7 |
127,568,969 (GRCm39) |
missense |
unknown |
|
|
R5283:Fus
|
UTSW |
7 |
127,584,719 (GRCm39) |
unclassified |
probably benign |
|
|
R5614:Fus
|
UTSW |
7 |
127,573,543 (GRCm39) |
unclassified |
probably benign |
|
|
R6182:Fus
|
UTSW |
7 |
127,576,465 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6239:Fus
|
UTSW |
7 |
127,580,606 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6939:Fus
|
UTSW |
7 |
127,571,741 (GRCm39) |
unclassified |
probably benign |
|
|
R7130:Fus
|
UTSW |
7 |
127,573,585 (GRCm39) |
missense |
unknown |
|
|
R7340:Fus
|
UTSW |
7 |
127,581,123 (GRCm39) |
splice site |
probably null |
|
|
R8293:Fus
|
UTSW |
7 |
127,571,749 (GRCm39) |
missense |
unknown |
|
|
R8440:Fus
|
UTSW |
7 |
127,568,998 (GRCm39) |
missense |
unknown |
|
|
R9154:Fus
|
UTSW |
7 |
127,580,440 (GRCm39) |
missense |
unknown |
|
|
X0061:Fus
|
UTSW |
7 |
127,584,605 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAGGATAGGGTTTGGAGAG -3'
(R):5'- ACTCAACAGTTTACATGTGTGC -3'
Sequencing Primer
(F):5'- TTTGGAGAGAGGCTGGAAGC -3'
(R):5'- AAACATCATGTCTGTCCGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation